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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Developmental Disabilities (D002658)
Parent Node: Microcephaly (D008831)
Parent Node: Seizures (D012640)
..Starting node ..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dysmyelination With Jaundice (C565610)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Hyper-Beta-Alaninemia (C562684)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Muller Barth Menger syndrome (C537370)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SeSAME syndrome (C557674)
..Tranebjaerg Svejgaard syndrome (C536978)
..Warman Mulliken Hayward syndrome (C536684)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7195

Name:

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Definition:

Alternative IDs:

ParentIDs:

MESH:D002658|MESH:D008831|MESH:D012640

TreeNumbers:

C05.660.207.620/613402 |C10.228.140.490.631/613402 |C10.500.507.400.500/613402 |C10.597.742/613402 |C16.131.621.207.620/613402 |C16.131.666.507.400.500/613402 |C23.888.592.742/613402 |F03.550.362/613402

Synonyms:

EIEE10 |EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 |MCSZ

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 613402
MeSH: 613402
OMIM: 613402;

Genes: PNKP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia	HP:0040283
3	HP:0200134	Epileptic encephalopathy
4	HP:0001290	Generalized hypotonia
5	HP:0000752	Hyperactivity
6	HP:0002079	Hypoplasia of the corpus callosum
7	HP:0001265	Hyporeflexia	HP:0040283
8	HP:0010864	Intellectual disability, severe
9	HP:0001270	Motor delay
10	HP:0000253	Progressive microcephaly
11	HP:0001250	Seizure
12	HP:0009879	Simplified gyral pattern
13	HP:0003202	Skeletal muscle atrophy
14	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_007254.3(PNKP):c.*15C>T	11284	PNKP	Benign;Uncertain significance	1050332	RCV000147342; RCV000127496;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50364490	50364490	NM_007254.3:c.*15C>T		NC_000019.9:g.50364490G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.1522G>A (p.Glu508Lys)	11284	PNKP	Benign;Uncertain significance	146478958	RCV000147354; RCV000127494;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50364549	50364549	NM_007254.3:c.1522G>A	NP_009185.2:p.Glu508Lys	NC_000019.9:g.50364549C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.1497G>A (p.Leu499=)	11284	PNKP	Benign;Uncertain significance	142199280	RCV000147352; RCV000081507; RCV000212875;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374; MedGen:CN221809	19	50364574	50364574	NM_007254.3:c.1497G>A	NP_009185.2:p.Leu499=	NC_000019.9:g.50364574C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided; CN169374 not specified
NM_007254.3(PNKP):c.1491C>T (p.Ala497=)	11284	PNKP	Benign;Uncertain significance	116192442	RCV000147351; RCV000081506; RCV000186648;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374; MedGen:CN221809	19	50364580	50364580	NM_007254.3:c.1491C>T	NP_009185.2:p.Ala497=	NC_000019.9:g.50364580G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided; CN169374 not specified
NM_007254.3(PNKP):c.1482C>A (p.Gly494=)	11284	PNKP	Uncertain significance	60279874	RCV000147350;	N	MedGen:C3150667,OMIM:613402	19	50364589	50364589	NM_007254.3:c.1482C>A	NP_009185.2:p.Gly494=	NC_000019.9:g.50364589G>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.1387-49_1387-33del	11284	PNKP	Pathogenic	752902474	RCV000194165;	N	MedGen:C3150667,OMIM:613402	19	50364800	50364816	NM_007254.3:c.1387-49_1387-33del		NC_000019.9:g.50364800_50364816del17	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.1385G>A (p.Arg462Gln)	11284	PNKP	Uncertain significance	376854895	RCV000147348; RCV000081505;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50364866	50364866	NM_007254.3:c.1385G>A	NP_009185.2:p.Arg462Gln	NC_000019.9:g.50364866C>G,NC_000019.9:g.50364866C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.1317_1321dupAGCCG (p.Ala441Glufs)	11284	PNKP	Pathogenic	796052862	RCV000174913; RCV000188475;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50364930	50364934	NM_007254.3:c.1317_1321dupAGCCG	NP_009185.2:p.Ala441Glufs	NC_000019.9:g.50364929_50364930insCGGCT,NC_000019.9:g.50364930_50364934dupCGGCT	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.1319C>G (p.Ala440Gly)	11284	PNKP	Uncertain significance	377688490	RCV000147347;	N	MedGen:C3150667,OMIM:613402	19	50364932	50364932	NM_007254.3:c.1319C>G	NP_009185.2:p.Ala440Gly	NC_000019.9:g.50364932G>C	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.1295_1298+6del	11284	PNKP	Pathogenic	587784366	RCV000147346; RCV000188473;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50365023	50365032	NM_007254.3:c.1295_1298+6del		NC_000019.9:g.50365023_50365032delCGCTACCTGG	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.1253_1269dupGGGTCGCCATCGACAAC (p.Thr424Glyfs)	11284	PNKP	Pathogenic	587784365	RCV000005120; RCV000188471; RCV000167521;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809; MedGen:CN228595,OMIM:616267	19	50365058	50365074	NM_007254.3:c.1253_1269dupGGGTCGCCATCGACAAC	NP_009185.2:p.Thr424Glyfs	NC_000019.9:g.50365058_50365074dup17	OMIM Allelic Variant:605610.0002	CN228595 616267 Ataxia-oculomotor apraxia 4; C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.1126+9C>T	11284	PNKP	Benign;Uncertain significance	3739202	RCV000147344; RCV000127487;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50365433	50365433	NM_007254.3:c.1126+9C>T		NC_000019.9:g.50365433G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.994C>T (p.Pro332Ser)	11284	PNKP	Uncertain significance	373922574	RCV000147375; RCV000188479;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50365663	50365663	NM_007254.3:c.994C>T	NP_009185.2:p.Pro332Ser	NC_000019.9:g.50365663G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.976G>A (p.Glu326Lys)	11284	PNKP	Pathogenic	267606956	RCV000005119; RCV000188441;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50365681	50365681	NM_007254.3:c.976G>A	NP_009185.2:p.Glu326Lys	NC_000019.9:g.50365681C>T	OMIM Allelic Variant:605610.0001	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.968C>T (p.Thr323Met)	11284	PNKP	Likely pathogenic;Uncertain significance	372148913	RCV000147374; RCV000174119;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50365689	50365689	NM_007254.3:c.968C>T	NP_009185.2:p.Thr323Met	NC_000019.9:g.50365689G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.876A>G (p.Gly292=)	11284	PNKP	Benign;Uncertain significance	3739199	RCV000147372; RCV000173827;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50365855	50365855	NM_007254.3:c.876A>G	NP_009185.2:p.Gly292=	NC_000019.9:g.50365855T>C	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.861G>C (p.Val287=)	11284	PNKP	Uncertain significance	75203375	RCV000147371;	N	MedGen:C3150667,OMIM:613402	19	50365951	50365951	NM_007254.3:c.861G>C	NP_009185.2:p.Val287=	NC_000019.9:g.50365951C>G	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.744+8T>C	11284	PNKP	Uncertain significance	587784370	RCV000147367;	N	MedGen:C3150667,OMIM:613402	19	50367213	50367213	NM_007254.3:c.744+8T>C		NC_000019.9:g.50367213A>G	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.671G>A (p.Arg224His)	11284	PNKP	Uncertain significance	199705876	RCV000147366; RCV000188478;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50367294	50367294	NM_007254.3:c.671G>A	NP_009185.2:p.Arg224His	NC_000019.9:g.50367294C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.666C>T (p.Ile222=)	11284	PNKP	Uncertain significance	587784369	RCV000147365;	N	MedGen:C3150667,OMIM:613402	19	50367299	50367299	NM_007254.3:c.666C>T	NP_009185.2:p.Ile222=	NC_000019.9:g.50367299G>A,NC_000019.9:g.50367299G>C	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.579-4G>A	11284	PNKP	Uncertain significance	371834726	RCV000147361;	N	MedGen:C3150667,OMIM:613402	19	50367497	50367497	NM_007254.3:c.579-4G>A		NC_000019.9:g.50367497C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.526C>T (p.Leu176Phe)	11284	PNKP	Pathogenic	267606957	RCV000005121;	N	MedGen:C3150667,OMIM:613402	19	50367633	50367633	NM_007254.3:c.526C>T	NP_009185.2:p.Leu176Phe	NC_000019.9:g.50367633G>A	OMIM Allelic Variant:605610.0003	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.457T>C (p.Leu153=)	11284	PNKP	Uncertain significance	587784368	RCV000147359;	N	MedGen:C3150667,OMIM:613402	19	50368425	50368425	NM_007254.3:c.457T>C	NP_009185.2:p.Leu153=	NC_000019.9:g.50368425A>G	-	C3150667 613402 Early infantile epileptic encephalopathy 10
NM_007254.3(PNKP):c.416G>A (p.Arg139His)	11284	PNKP	Uncertain significance	34472250	RCV000147358; RCV000153751;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50368466	50368466	NM_007254.3:c.416G>A	NP_009185.2:p.Arg139His	NC_000019.9:g.50368466C>T	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.302C>T (p.Pro101Leu)	11284	PNKP	Uncertain significance	587784367	RCV000147357; RCV000178285;	N	MedGen:C3150667,OMIM:613402; MedGen:CN221809	19	50368580	50368580	NM_007254.3:c.302C>T	NP_009185.2:p.Pro101Leu	NC_000019.9:g.50368580G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN221809 not provided
NM_007254.3(PNKP):c.188C>T (p.Ala63Val)	11284	PNKP	Likely benign;Uncertain significance	3739173	RCV000147356; RCV000188409;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50369666	50369666	NM_007254.3:c.188C>T	NP_009185.2:p.Ala63Val	NC_000019.9:g.50369666G>A	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified
NM_007254.3(PNKP):c.151+18T>G	11284	PNKP	Benign;Uncertain significance	55756709	RCV000147353; RCV000188408;	N	MedGen:C3150667,OMIM:613402; MedGen:CN169374	19	50370293	50370293	NM_007254.3:c.151+18T>G		NC_000019.9:g.50370293A>C	-	C3150667 613402 Early infantile epileptic encephalopathy 10; CN169374 not specified